A Serious look at Holoprosencephaly (HPE)

Holoprosencephaly may not be in your vocabulary and may not be on your list of pregnancy concerns. However, chances are it should be! HP is a fatal defect that occurs in approximately 1 of every 1,000 to 5,000 live births each year. However, do not let that number fool you. It is estimated that as many as one in every 250 miscarriages may be caused by this evil villain. Less than 5% of those diagnosed with HPE will survival the pregnancy and delivery. The rare few that do survive birth will normally not live beyond 6 months of age.

Holoprosencephaly is usually diagnosed when the frontal portion of the brain does not develop properly. This disorder usually occurs very soon after conception and only continues to become more conspicuous as the fetus begins to grow. HPE may go undiagnosed unless the patient has a level II ultrasound or additional high risk pregnancy testing. If the patient has had prior pregnancy complications the obstetrician may order these tests. Otherwise, a level I ultrasound will normally be performed in the mothers fifth month of pregnancy. Because a level I ultrasounds does not provide the technology to look inside the brain of the fetus, chances are it may not expose this disorder.

In additional to the malformation of the brain, this serious birth defect normally comes with many other complications. Most of the victims diagnosed with holoprosencephaly will have severe facial malformations. They may include, but are not limited to, a cleft lip and palate, a flat nose or no nose at all, water on the brain, only one front tooth and eyes that are close together. In the most severe forms the fetus may only have one eye or may be missing facial features. This disorder can range from mild to severe. Obviously, as the severity increases, the chance of survival decreases.
Each form is classified as follows:

Lobar Holoprosencephaly - This is the mildest variation of this disorder. In this case, the brain normally is not divided at all. With lobar Holoprosencephaly usually comes extensive facial deformities. A child diagnosed with this degree of HPE may live a relatively normal life. However, it is very likely that reconstructive surgeries and many years of therapy will be required for a normal existence.

Semilobar Holoprosencephaly - This is considered the moderate form of HPE. The brain is partially divided and there are some moderate abnormalities. In many cases the frontal portion of the brain has not developed at all. The facial deformities are normally more noticeable. The opportunity for surgery and therapy becomes even more necessary.

Alobar Holoprosencephaly - This is the most severe form. In this situation the brain is not divided at all and the abnormalities are in the most severe form. The chance of survival is very slim.

Even in it's mildest form, those effected with this disorder will often have severe facial deformities, mental retardation, fluid on the brain and various other problems. Surviving children with this defect will normally develop a variety of neurological disorders, including cognitive and developmental delays, seizures, motor impairment, and endocrinological dysfunction

The treatment for HPE is symptomatic and supportive. No standard course of action has been established to treat or prevent this disorder. Scientists have not been able to pinpoint the cause of HPE. Doctors suggest that HPE may be linked to maternal diabetes, infections, specific genes, environmental factors or certain medications. However, the exact reason this occurs is unknown at this time.

Because of the fluid on the brain, in most cases it is dangerous for the mother to carry this fetus to term. The fluid may only collect and cause a great deal of swelling. Making it virtually impossible for the mother to have a normal pregnancy and delivery.